Sotos syndrome

NFIX - Sotos syndrome type 2

This test is available for the following conditions:

• Conditions > Intellectual Disability > Sotos syndrome
• Conditions > Hearing impairment > Sotos syndrome

This product is also part of the following panels:

• Intellectual disability panel
• Mendelian inherited disorders panel
• Short stature/skeletal dysplasia panel
• Tall stature panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

OMIM: 164005
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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